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Genetic and Rare Diseases Information Center (GARD)

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Crouzon syndrome

Other Names for this Disease
  • CFD1
  • Craniofacial dysostosis type 1
  • Crouzon craniofacial dysostosis
  • Crouzon disease
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Your Question

I'm looking into having kids with my spouse. I have Crouzon syndrome and I was wondering if my child is guaranteed to have it. My mom has it but neither of her parents did. I'm very concerned.

Our Answer

We have identified the following information that we hope you find helpful. If you still have questions, please contact us.

What is Crouzon syndrome?

Crouzon syndrome is a genetic disorder characterized by the premature fusion of certain skull bones (craniosynostosis). This early fusion prevents the skull from growing normally and affects the shape of the head and face. The abnormal growth of the bones in the skull causes wide-set, bulging eyes, eyes that do not point in the same direction (strabismus), a beaked nose, and an underdeveloped upper jaw. Other features may include dental problems, hearing loss, and an opening in the lip and the roof of the mouth (cleft lip and palate). The severity of these signs and symptoms varies among affected people. People with Crouzon syndrome are usually of normal intelligence. Crouzon syndrome is caused by mutations in the FGFR2 gene and is inherited in an autosomal dominant fashion.[1]
Last updated: 3/24/2011

How do people inherit Crouzon syndrome?

Crouzon syndrome is inherited in an autosomal dominant pattern, which means that one copy of the altered gene in each cell is sufficient to cause the disorder. In some cases, an affected person inherits the mutation from one affected parent. Other cases result from new mutations in the gene and occur in people with no history of the disorder in their family. Individuals with Crouzon syndrome have a 50% chance of having offspring with this condition.[1]
Last updated: 3/24/2011

Is genetic testing available for Crouzon syndrome?

Yes. GeneTests lists the names of laboratories that are performing genetic testing for Crouzon syndrome. To view the contact information for the clinical laboratories, conducting testing click here.
Please note:  Most of the laboratories listed through GeneTests do not accept direct contact from patients and their families; therefore, if you are interested in learning more, you will need to work with a health care provider or a genetics professional. Below, we provide a list of online resources that can assist you in locating a genetics professional near you.
Last updated: 3/24/2011

Is it possible to find out during a pregnancy whether the fetus will have Crouzon syndrome?

Yes. Prenatal diagnosis is used to detect changes in a fetusgenes or chromosomes before birth. For pregnancies at 50% risk of having a child affected with Crouzon syndrome, prenatal diagnosis is possible by analysis of DNA extracted from fetal cells obtained by amniocentesis (usually performed at about 15 to 18 weeks gestation) or chorionic villus sampling (CVS) (usually performed at about ten to 12 weeks gestation). The disease-causing mutation of the affected parent must be identified before prenatal testing can be performed.[2]
Last updated: 6/6/2011

Is there a way to prevent having a child with Crouzon syndrome?

Preimplantation genetic diagnosis (PGD) is a specialized technique that can reduce the risk of having a child with a particular genetic condition. It is used to detect genetic changes (mutations) in embryos that were created using in-vitro fertilization (IVF). IVF involves removing egg cells from a woman’s ovaries and fertilizing them with sperm cells outside the body. To perform preimplantation testing, a small number of cells are taken from these embryos and tested for the genetic changes in question. Only embryos without these changes may then be implanted in the uterus to initiate a pregnancy.[2]

In families where the disease-causing mutation has been identified, PGD may be available to prevent having a child with Crouzon syndrome. For laboratories offering PGD, click here.
Last updated: 3/24/2011

How can I find a genetics professional in my area?

Genetics clinics are a source of information for individuals and families regarding genetic conditions, treatment, inheritance, and genetic risks to other family members. More information about genetic consultations is available from Genetics Home Reference. To find a genetics clinic, we recommend that you contact your primary healthcare provider for a referral.

The following online resources can help you find a genetics professional in your community:
Last updated: 10/18/2013